溶酶体贮积症的病例诊断及产前诊断

DIAGNOSIS AND PRENATAL DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES

报道了10年来溶酶体贮积症的病例诊断及产前诊断的工作。共诊断先证者67例,产前诊断20例,检出3例患病胎儿。并从3个中国人黑矇性痴呆家庭中鉴定了三种突变型。其中两种突变过去未曾报道。

Since 1989, 67 cases of lysosomal storage diseases have been identified, the majority being mucopolysaccharidosis(MPS) Prenatal diagnosis have been carried out in 20 pregnancies at risk, including 7 MPS. 8 Tay-Sachs disease(TSD), 2 Metachromatic leukodystrophy, 1 Gaucher, 1 Niemaxm-Pick and 1 Mucolipidosis Ⅲ. Three affected fetuses have been identified. The diagnosis was established by enzyme assays and ^(35)S incorporation test in cultured amniocytes. Recently, c.v.biopsy has bee employed. None of our TSD is patient was of Jewish descent.The gene analysis of Chinese TSD is a collaborative work between us and the Medical Genetics Group of McGill University, Canada. Infantile TSD all eles in three unrelated Chinese families have been identified and characterized.Two of the three mutations identified are novel, occurring in homozygous form in the patients. The third has been reported in Italian patients.